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Epilepsy, familial adult myoclonic, 7(FCMTE7; FAME7; BAFME7)

MedGen UID:
1648435
Concept ID:
C4748080
Disease or Syndrome
Synonyms: BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY 7; CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 7
 
Gene (location): RAPGEF2 (4q32.1)
 
Monarch Initiative: MONDO:0054847
OMIM®: 618075

Clinical features

From HPO
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Myoclonic tremor
MedGen UID:
1739193
Concept ID:
C5421572
Disease or Syndrome
A tremor-like cortical myoclonus. The tremulous movements are in fact small, high-frequency myoclonic jerks, induced by posture or action. They can be mild, but can also be more incapacitating. When present in the lower limbs, these may lead to gait disorders and even drop attacks. These tremor-like movements during action can be mistaken for essential tremor or epileptic seizures.

Professional guidelines

PubMed

Tong J, Ji T, Liu T, Liu J, Chen Y, Li Z, Lu N, Li Q
Epilepsy Behav 2024 Mar;152:109653. Epub 2024 Jan 25 doi: 10.1016/j.yebeh.2024.109653. PMID: 38277848
Strzelczyk A, Schubert-Bast S
CNS Drugs 2022 Mar;36(3):217-237. Epub 2022 Feb 14 doi: 10.1007/s40263-022-00898-1. PMID: 35156171Free PMC Article
Cardenal-Muñoz E, Auvin S, Villanueva V, Cross JH, Zuberi SM, Lagae L, Aibar JÁ
Epilepsia Open 2022 Mar;7(1):11-26. Epub 2021 Dec 19 doi: 10.1002/epi4.12569. PMID: 34882995Free PMC Article

Recent clinical studies

Etiology

Michaud M, Stojkovic T, Maisonobe T, Behin A, Rucheton B, Léonard-Louis S, Eymard B, Laforêt P
J Neuromuscul Dis 2020;7(4):419-423. doi: 10.3233/JND-200513. PMID: 32538863
Lattanzi S, Brigo F, Trinka E, Zaccara G, Cagnetti C, Del Giovane C, Silvestrini M
Drugs 2018 Nov;78(17):1791-1804. doi: 10.1007/s40265-018-0992-5. PMID: 30390221
Kandemir M, Gündüz A, Uzun N, Yeni N, Kızıltan M
Neurol Sci 2015 Jul;36(7):1247-9. Epub 2015 Mar 25 doi: 10.1007/s10072-015-2181-6. PMID: 25805707
Kim SH, Nordli DR Jr, Berg AT, Koh S, Laux L
Clin Neurophysiol 2015 Mar;126(3):446-55. Epub 2014 Jun 30 doi: 10.1016/j.clinph.2014.06.024. PMID: 25046982
Hui AC, Cheng C, Lam A, Mok V, Joynt GM
Eur Neurol 2005;54(1):10-3. Epub 2005 Jul 5 doi: 10.1159/000086755. PMID: 16015015

Diagnosis

Cardenal-Muñoz E, Auvin S, Villanueva V, Cross JH, Zuberi SM, Lagae L, Aibar JÁ
Epilepsia Open 2022 Mar;7(1):11-26. Epub 2021 Dec 19 doi: 10.1002/epi4.12569. PMID: 34882995Free PMC Article
Herzog R, Hellenbroich Y, Brüggemann N, Lohmann K, Grimmel M, Haack TB, von Spiczak S, Münchau A
Ann Clin Transl Neurol 2021 Jul;8(7):1524-1527. Epub 2021 Jun 6 doi: 10.1002/acn3.51403. PMID: 34092044Free PMC Article
Ernst ME, Baugh EH, Thomas A, Bier L, Lippa N, Stong N, Mulhern MS, Kushary S, Akman CI, Heinzen EL, Yeh R, Bi W, Hanchard NA, Burrage LC, Leduc MS, Chong JSC, Bend R, Lyons MJ, Lee JA, Suwannarat P, Brilstra E, Simon M, Koopmans M, van Binsbergen E, Groepper D, Fleischer J, Nava C, Keren B, Mignot C, Mathieu S, Mancini GMS, Madan-Khetarpal S, Infante EM, Bluvstein J, Seeley A, Bachman K, Klee EW, Schultz-Rogers LE, Hasadsri L, Barnett S, Ellingson MS, Ferber MJ, Narayanan V, Ramsey K, Rauch A, Joset P, Steindl K, Sheehan T, Poduri A, Vasquez A, Ruivenkamp C, White SM, Pais L, Monaghan KG, Goldstein DB, Sands TT, Aggarwal V
Epilepsia 2021 Jul;62(7):e103-e109. Epub 2021 May 26 doi: 10.1111/epi.16931. PMID: 34041744Free PMC Article
Michaud M, Stojkovic T, Maisonobe T, Behin A, Rucheton B, Léonard-Louis S, Eymard B, Laforêt P
J Neuromuscul Dis 2020;7(4):419-423. doi: 10.3233/JND-200513. PMID: 32538863
Bate L, Gardiner M
Epileptic Disord 1999 Mar;1(1):7-19. PMID: 10937127

Therapy

Marshall J, Skrobanski H, Moore-Ramdin L, Kornalska K, Swinburn P, Bowditch S
J Child Neurol 2023 May;38(6-7):394-406. Epub 2023 Jul 16 doi: 10.1177/08830738231185241. PMID: 37455396Free PMC Article
Herzog R, Hellenbroich Y, Brüggemann N, Lohmann K, Grimmel M, Haack TB, von Spiczak S, Münchau A
Ann Clin Transl Neurol 2021 Jul;8(7):1524-1527. Epub 2021 Jun 6 doi: 10.1002/acn3.51403. PMID: 34092044Free PMC Article
Lattanzi S, Brigo F, Trinka E, Zaccara G, Cagnetti C, Del Giovane C, Silvestrini M
Drugs 2018 Nov;78(17):1791-1804. doi: 10.1007/s40265-018-0992-5. PMID: 30390221
Kandemir M, Gündüz A, Uzun N, Yeni N, Kızıltan M
Neurol Sci 2015 Jul;36(7):1247-9. Epub 2015 Mar 25 doi: 10.1007/s10072-015-2181-6. PMID: 25805707
Oles KS, Bell WL
Ann Pharmacother 2008 Jul;42(7):1139-41. Epub 2008 Jun 24 doi: 10.1345/aph.1L052. PMID: 18577760

Prognosis

Pietrafusa N, La Neve A, de Palma L, Boero G, Luisi C, Vigevano F, Specchio N
Brain Dev 2021 Jun;43(6):688-697. Epub 2021 Mar 27 doi: 10.1016/j.braindev.2021.02.005. PMID: 33781581
Mizuguchi T, Suzuki T, Abe C, Umemura A, Tokunaga K, Kawai Y, Nakamura M, Nagasaki M, Kinoshita K, Okamura Y, Miyatake S, Miyake N, Matsumoto N
J Hum Genet 2019 May;64(5):359-368. Epub 2019 Feb 13 doi: 10.1038/s10038-019-0569-5. PMID: 30760880
Cheah CS, Westenbroek RE, Roden WH, Kalume F, Oakley JC, Jansen LA, Catterall WA
Channels (Austin) 2013 Nov-Dec;7(6):468-72. Epub 2013 Aug 21 doi: 10.4161/chan.26023. PMID: 23965409Free PMC Article
Ceulemans B, Boel M, Leyssens K, Van Rossem C, Neels P, Jorens PG, Lagae L
Epilepsia 2012 Jul;53(7):1131-9. Epub 2012 May 3 doi: 10.1111/j.1528-1167.2012.03495.x. PMID: 22554283
Gambardella A, Aguglia U, Oliveri RL, Russo C, Zappia M, Quattrone A
Epilepsia 1997 Jul;38(7):819-23. doi: 10.1111/j.1528-1157.1997.tb01469.x. PMID: 9579909

Clinical prediction guides

Poffenberger CN, Inati S, Tayebi N, Stubblefield BK, Ryan E, Schiffmann R, Sidransky E, Lopez G
Mol Genet Metab 2020 Nov;131(3):358-363. Epub 2020 Oct 20 doi: 10.1016/j.ymgme.2020.10.010. PMID: 33183916Free PMC Article
Lagae L, Sullivan J, Knupp K, Laux L, Polster T, Nikanorova M, Devinsky O, Cross JH, Guerrini R, Talwar D, Miller I, Farfel G, Galer BS, Gammaitoni A, Mistry A, Morrison G, Lock M, Agarwal A, Lai WW, Ceulemans B; FAiRE DS Study Group
Lancet 2019 Dec 21;394(10216):2243-2254. Epub 2019 Dec 17 doi: 10.1016/S0140-6736(19)32500-0. PMID: 31862249
Raju PK, Satishchandra P, Nayak S, Iyer V, Sinha S, Anand A
Hum Mutat 2017 Jul;38(7):816-826. Epub 2017 May 2 doi: 10.1002/humu.23221. PMID: 28370826
Kim SH, Nordli DR Jr, Berg AT, Koh S, Laux L
Clin Neurophysiol 2015 Mar;126(3):446-55. Epub 2014 Jun 30 doi: 10.1016/j.clinph.2014.06.024. PMID: 25046982
Hui AC, Cheng C, Lam A, Mok V, Joynt GM
Eur Neurol 2005;54(1):10-3. Epub 2005 Jul 5 doi: 10.1159/000086755. PMID: 16015015

Recent systematic reviews

Tong J, Ji T, Liu T, Liu J, Chen Y, Li Z, Lu N, Li Q
Epilepsy Behav 2024 Mar;152:109653. Epub 2024 Jan 25 doi: 10.1016/j.yebeh.2024.109653. PMID: 38277848
Puteikis K, Mameniškienė R, Wolf P
Epilepsy Behav 2023 Aug;145:109346. Epub 2023 Jul 10 doi: 10.1016/j.yebeh.2023.109346. PMID: 37437391
Selvarajah A, Zulfiqar-Ali Q, Marques P, Rong M, Andrade DM
Seizure 2021 Apr;87:39-45. Epub 2021 Feb 22 doi: 10.1016/j.seizure.2021.02.025. PMID: 33677403
Lattanzi S, Brigo F, Trinka E, Zaccara G, Cagnetti C, Del Giovane C, Silvestrini M
Drugs 2018 Nov;78(17):1791-1804. doi: 10.1007/s40265-018-0992-5. PMID: 30390221

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